Results 31 to 40 of about 552,532 (299)

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research

Frontiers in Neuroscience
Over the last 15 years, significant progress has been made for Creatine Transporter Deficiency (CTD) patients, with increased awareness and visibility, better diagnosis, and improved care.
Carole Chehowah, Carole Chehowah, Audrey Mittelman, Vincent des Portes   +3 more
doaj   +1 more source

The solute transport and binding profile of a novel nucleobase cation symporter 2 from the honeybee pathogen Paenibacillus larvae

FEBS Open Bio, 2018
Here, we report that a novel nucleobase cation symporter 2 encoded in the genome of the honeybee bacterial pathogen Paenibacillus larvae reveals high levels of amino acid sequence similarity to the Escherichia coli and Bacillus subtilis uric acid and ...
Amanda J. Stoffer‐Bittner, Candace R. Alexander, Douglas W. Dingman, George S. Mourad, Neil P. Schultes   +4 more
doaj   +1 more source

Nephron‐Specific Disruption of Nitric Oxide Synthase 3 Causes Hypertension and Impaired Salt Excretion

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background In vitro studies suggest that nephron nitric oxide synthase 3 (NOS3) modulates tubule Na+ transport. Methods and Results To assess nephron NOS3 relevance in vivo, knockout (KO) mice with doxycycline‐inducible nephron‐wide deletion of NOS3 were
Yang Gao, Deborah Stuart, Takamune Takahishi, Donald E. Kohan   +3 more
doaj   +1 more source

Parent Quality of Life at Two Years Following Their Child's Completion of Acute Lymphoblastic Leukemia Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Parents of children treated for acute lymphoblastic leukemia (ALL) often experience significant caregiver burden and disruption to their well‐being. While parent quality of life (QoL) during treatment is well characterized, little is known about outcomes during early survivorship.
Sara Dal Pra, Maria McCarthy, Michael Takagi, Cinzia De Luca   +3 more
wiley   +1 more source

Dopaminergic Neurotransmission in Patients With Parkinson's Disease and Impulse Control Disorders: A Systematic Review and Meta-Analysis of PET and SPECT Studies

Frontiers in Neurology, 2018
Background: Around 30% Parkinson's disease (PD) patients develop impulse control disorders (ICDs) to D2/3 dopamine agonists and, to a lesser extent, levodopa.
Alice Martini, Denise Dal Lago, Nicola M. J. Edelstyn, Matteo Salgarello, Fabio Lugoboni, Stefano Tamburin   +5 more
doaj   +1 more source

Upacicalcet: A Novel Intravenous Calcimimetic Agent for Patients Undergoing Hemodialysis With Secondary Hyperparathyroidism

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Secondary hyperparathyroidism (SHPT) is a common complication in patients receiving maintenance dialysis, driven by calcium and phosphate metabolism disturbances. Calcimimetics are central to the management of SHPT by enhancing calcium‐sensing receptor sensitivity and reducing parathyroid hormone secretion.
Fumihiko Koiwa, Daisuke Honda, Seigo Akari, Tadao Akizawa   +3 more
wiley   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Pathophysiological power of improper tonic GABAA conductances in mature and immature models

Frontiers in Neural Circuits, 2013
High-affinity extrasynaptic gamma-aminobutyric acid A (GABAA) receptors are tonically activated by low and consistent levels of ambient GABA, mediating chronic inhibition against neuronal excitability (tonic inhibition) and the modulation of neural ...
Kiyoshi eEgawa, Atsuo eFukuda
doaj   +1 more source

Aging-Related Changes in Expression and Function of Glutamate Transporters in Rat Spinal Cord Astrocytes

Neuroglia, 2023
Astrocytes make up the predominant cell population among glial cells in the mammalian brain, and they play a vital role in ensuring its optimal functioning.
Shiksha Sharan, Bhanu Prakash Tewari, Preeti G. Joshi   +2 more
doaj   +1 more source